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Method for detecting spinal muscular atrophy virulence gene

A spinal muscular atrophy, disease-causing gene technology, applied in the field of genetic disease genetic detection, can solve the problem of sequencing read length, SMN1, SMN2 gene point mutations and small insertions, deletions cannot be effectively detected, hindering patients with spinal muscular atrophy Problems such as diagnosis and treatment, to achieve the effect of high throughput and low cost

Inactive Publication Date: 2015-07-08
代苒
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Problems solved by technology

[0008]However, due to the relatively short read length (about 300-1000 bases) of traditional Sanger sequencing and next-generation sequencing technology, SMN1 and SMN2 genes Possible point mutations and small insertions and deletions cannot be effectively detected
This severely hinders the diagnosis and treatment of patients with spinal muscular atrophy

Method used

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Experimental program
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Effect test

specific Embodiment approach 2

[0032] Step 1. Enrichment of SMN1 / SMN2 genes: Long range PCR is used to design specific PCR primers on both sides of the gene segments containing SMN1 and SMN2, through special DNA polymerase and special The reaction program directly amplifies the segment containing the target gene.

[0033] Long range amplification uses Long Range Hot Start PCR system kit. The specific experimental conditions and reaction system are as follows: 5× KAPA Long Range Buffer (without Mg 2+ ) 1×, MgCl 2 (25 mM) 1.75 mM, dNTPs (10 mM each dNTP) 0.3 mM, Fwd primer (10 μM) 0.5 μM, Rev primer (10 μM) 0.5 μM, 50ng DNA, KAPA Long Range Hot Start DNA Polymerase (2.5 units / micro Liter) 1.25 units / 50 microliters, total volume 50 microliters, primer sequence used: PCR reaction conditions: 98°C 5 min; 25 cycles of 97°C 35 s, 62°C 35 s, and 72°C 4 min; a final of extension at 72°C 10 min.

[0034] Step 2. Nanopore sequencing library preparation: Add 50 μl Blunt / TA ligase master mix ligase and 10 μl Adapter Mix a...

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Abstract

The invention relates to a method for detecting a genetic disease gene and particularly discloses a method for detecting a spinal muscular atrophy virulence gene. The method comprises the following steps: 1, performing enrichment processing on SMN1 and SMN2; 2, preparing a nanopore sequencing library for sequencing; 3, sequencing by a sequenator; and 4, performing clinical report evaluation on the obtained sequence file. The method is convenient to use, low in cost and can effectively and accurately detect the copy number of the spinal muscular atrophy virulence gene, the small segment insertion and deletion, the point mutation, the noncoding region mutation and even the gene translocation, and brings help and breakthrough for the clinical diagnosis and scientific research on the spinal muscular atrophy.

Description

technical field [0001] The invention relates to a genetic disease gene detection method, in particular to a spinal muscular atrophy pathogenic gene detection method. Background technique [0002] Spinal muscular atrophy (SMA) is an inherited lower motor neuron disease characterized by progressive flaccid paralysis and muscle wasting. [0003] As an autosomal recessive genetic disease, the main cause is the progressive degeneration of the anterior horn motor neurons of the spinal cord, resulting in gradual weakness and atrophy of the muscles, resulting in motor impairment. Swallowing and breathing skills can also be affected in more severe cases, leading to death. This disease is the autosomal recessive genetic disease with the second highest incidence rate, with an incidence rate of 1:6000 to 1:10000, second only to the most common thalassemia. At present, there is no specific treatment for this disease. The main treatment methods are physical therapy and respiratory syste...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
Inventor 代苒
Owner 代苒
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